MYBPC3 c.742G>A ;(p.D248N)

Variant ID: 11-47370005-C-T

NM_000256.3(MYBPC3):c.742G>A;(p.D248N)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Spatial and Functional Distribution of MYBPC3 Pathogenic Variants and Clinical Outcomes in Patients With Hypertrophic Cardiomyopathy.

Circulation. Genomic And Precision Medicine
Helms, Adam S AS; Thompson, Andrea D AD; Glazier, Amelia A AA; Hafeez, Neha N; Kabani, Samat S; Rodriguez, Juliani J; Yob, Jaime M JM; Woolcock, Helen H; Mazzarotto, Francesco F; Lakdawala, Neal K NK; Wittekind, Samuel G SG; Pereira, Alexandre C AC; Jacoby, Daniel L DL; Colan, Steven D SD; Ashley, Euan A EA; Saberi, Sara S; Ware, James S JS; Ingles, Jodie J; Semsarian, Christopher C; Michels, Michelle M; Olivotto, Iacopo I; Ho, Carolyn Y CY; Day, Sharlene M SM
Publication Date: 2020-10

Variant appearance in text: MYBPC3: 742G>A
PubMed Link: 32841044
Variant Present in the following documents:
  • Main text
  • hcg-13-396-s002.pdf
  • hcg-13-396.pdf
View BVdb publication page